1. Tay-Sachs disease: From clinical description to molecular defect

Author:

Kaback Michael M.,Desnick Robert J.

Publisher

Elsevier

Reference56 articles.

1. Genetic and demographic considerations concerning Tay-Sachs disease;Aronson,1962

2. Infantile amaurotic family idiocy: Occurrence, genetic considerations and pathophysiology in the non-Jewish infant;Aronson;Pediatrics,1960

3. The subunits of hexosaminidase;Beutler;Biochem. J.,1976

4. Assignment of the human gene for Hex B to chromosome 5;Boedecker;Exp. Cell Res.,1975

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1. Neuro-Ophthalmologic Manifestations of Neurodegenerative Disease in Childhood;Pediatric Neuro-Ophthalmology;2016

2. Tay-Sachs Disease;Encyclopedia of Special Education;2014-02-07

3. Chaperone Therapy for GM2 Gangliosidosis: Effects of Pyrimethamine on β-Hexosaminidase Activity in Sandhoff Fibroblasts;Molecular Neurobiology;2013-12-20

4. Tay-Sachs Disease;Atlas of Genetic Diagnosis and Counseling;2012

5. John S. O’Brien;Journal of Child Neurology;2011-08-11

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